RNA polymerase III–related leukodystrophy (a childhood white-matter disorder)
Studies on RNA polymerase III-related leukodystrophy
['FUNDING_R01'] · ALBERT EINSTEIN COLLEGE OF MEDICINE · NIH-11170027
Looking at how mutations in RNA polymerase III cause a childhood white-matter disease using a mouse model to help people with Pol III-related leukodystrophy.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | ALBERT EINSTEIN COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (BRONX, UNITED STATES) |
| Trial ID | NIH-11170027 on ClinicalTrials.gov |
What this research studies
As someone affected by Pol III-related leukodystrophy, this project uses a new mouse model carrying the same genetic mutations seen in patients to study why the brain's white matter is underdeveloped and why patients get symptoms like ataxia and cognitive decline. Investigators create conditional 'knock-in' mutations and use lab methods to examine effects on myelin, neurons, and related tissues including eye and dental development. The team aims to map the molecular and cellular steps that lead to disease so they can point to targets for drugs or other therapies. The work is primarily in the lab but may link mouse findings back to patient samples or clinical data to make the results relevant to people.
Who could benefit from this research
Good fit: People with genetically confirmed Pol III-related leukodystrophy or family members willing to contribute clinical information or biospecimens are the most relevant participants.
Not a fit: Patients with unrelated leukodystrophies or neurological conditions caused by different genes are unlikely to receive direct benefit from this specific project.
Why it matters
Potential benefit: Could reveal disease mechanisms and targets that lead to therapies to slow or prevent neurological decline in Pol III-related leukodystrophy.
How similar studies have performed: This work builds on a recently developed mouse model that reproduces some patient features, so it is promising but still at an early preclinical stage rather than proven in people.
Where this research is happening
BRONX, UNITED STATES
- ALBERT EINSTEIN COLLEGE OF MEDICINE — BRONX, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: WILLIS, IAN M — ALBERT EINSTEIN COLLEGE OF MEDICINE
- Study coordinator: WILLIS, IAN M
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Animal Disease Models